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A variant of the CACNAIA gene probably underlay the early infantile epileptic encephalopathy 42 in the proband, which has a de novo origin. To explore the genetic basis for a Chinese pedigree affected with amyloidosis cutis dyschromica. High-throughput sequencing was carried out for the proband. Bioinformatic analysis was used to identify the pathogenic variants. The result was verified by Sanger sequencing. A homozygous nonsense variant c.565CT (p.Arg189X) of the GPNMB gene was identified in the proband, his elder brother and youn
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